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PreConception Screening

Peace of mind for a healthy baby

If you and your partner are trying to get pregnant, PreConception Screening allows you to determine whether you are at risk of conceiving a child with a genetic disorder.

Predisposition to genetic disorders can be an added source of concern when trying to conceive, with many couples fearing they may pass on genetic mutations to their children. Queensland Fertility Group are leaders in preconception genetic testing.

Why should I have PreConception Screening?

The PreConception Screen is a blood test that you can have before you become pregnant, to help determine your likelihood as a couple of having a child with a genetic disorder that can negatively impact their health.

There are more than 3,000 inherited disorders that are individually rare, but collectively affect approximately 1% of births. Currently, only a few specific disorders are screened for during the course of pregnancy.

What is a genetic variation or mutation?

Genes are inherited from your biological parents - one set from each - and carry information from both of them that will contribute to our appearance, for example your eye colour. Genes are why you look like your Mum or Dad. But more than that, every gene has a special function in the body to perform.

Genes provide the instructions for the development of proteins and how they function. Proteins are the building blocks of life – they perform many critical functions in the body, including: healing wounds, fighting infection and building muscle

We all have some level of variation in our genes, and much of this variation is harmless - in fact most people are unaware that this variation even exists. However some variations mean that important proteins do not function, or do not function as they should. These genetic variations (called mutations) cause disease.

For example a defect in a gene (called CFTR) that controls the movement of salt and water in and out of cells causes Cystic Fibrosis.

Why should I consider genetic testing?

There are many rare recessive mutations that do not affect your health, but can cause serious diseases in your children if your partner also carries a mutation in the same gene. Genetic testing gives us the ability to look for these mutations in your genes.

A person is called a ‘carrier’ when they have a recessive (or silent) genetic mutation that does not cause any health issues. Research in our laboratory has shown 1 in 16 of our male patients carries a mutation causing Cystic Fibrosis and 1 in 23 of our female patients carries a mutation. In most cases our patients were unaware they carry this mutation.

If you and your partner both carry the same recessive mutation there is a 1 in 4 chance, in each pregnancy, that you will have a child affected by that genetic disorder.

How does the PreConception Screen test work?

The PreConception Screen determines your carrier status for 590 diseases. It does this by looking at mutations in the DNA in 552 genes. This screen covers genes known to cause diseases in early childhood. Some of the more common diseases covered included Cystic Fibrosis, adrenal hyperplasia, adrenoleukodystrophy, phenylketonuria. View the full list of diseases we can screen for...

If you are aware of a family history of specific gene mutations you should discuss this with your doctor in order to determine if this screen will test for that mutation.

The test is performed in the Queensland Fertility Group Genetics Laboratory using Next Generation Sequencing – the most advanced technology available for DNA sequencing.

PGD can help couples wishing to avoid the transmission of a known genetic condition.

Should my partner get tested?

It is likely that the majority of people will have 4-5 DNA changes (mutations that may be disease causing) in the genes tested. Both partners need to be screened to determine if they both carry mutations in the same gene, and are therefore at risk of having a child with a specific disease. We recommend screening at the same time.

What if I test positive?

If you and your partner are identified as carrying a mutation for the same gene your treating clinician will explain the clinical options available to you and arrange genetic counselling for you both. You will discuss clinical symptoms of the disease and available diagnostic options.

The information you obtain can then be used in planning future pregnancies and deciding on any possible forms of diagnostic intervention eg preimplantation genetic diagnosis (PGD) or prenatal diagnosis. Mutations of pathological significance, only carried by one parent, will also be reported and discussed as this information may have significance in the extended family

How much does the PreConception Screen cost?

The PreConception Screen costs $750 per person, or $1400 per couple. If either of you have a family history of one of the diseases being tested for, you should inform your treating Clinician because you may be entitled to reduced cost testing.

To find out more about PreConception Screening, please contact us today on 1800 111 483 or complete the form below: